Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55152270C>G , CM000681.2:g.55152270C>G | GRCh38 |
| NC_000019.9:g.55663638C>G , CM000681.1:g.55663638C>G | GRCh37 |
| NC_000019.8:g.60355450C>G | NCBI36 |
| NG_007866.2:g.10463G>C , LRG_432:g.10463G>C | |
| NG_011829.2:g.1969G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.550-353G>C MANE Select | ENSP00000341838.5:n.550-353G>C | |
| ENST00000665070.1:c.583-353G>C | ENSP00000499482.1:n.583-353G>C | |
| ENST00000344887.9:c.550-353G>C | ENSP00000341838.5:n.550-353G>C | |
| ENST00000585806.5:n.549-353G>C | ||
| ENST00000588882.1:c.475-353G>C | ENSP00000466729.1:n.475-353G>C | |
| ENST00000589864.1:n.378-353G>C | ||
| NM_000363.4:c.550-353G>C , LRG_432t1:c.550-353G>C | NP_000354.4:n.550-353G>C | |
| NM_000363.5:c.550-353G>C MANE Select | NP_000354.4:n.550-353G>C |